نتائج البحث - "De Vries, Petra F."

1

Academic Journal

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

المؤلفون: van der Werf, Ilse M., Jansen, Sandra, de Vries, Petra F., Gerstmans, Amber, van de Vorst, Maartje, Van Dijck, Anke, de Vries, Bert B. A., Gilissen, Christian, Hoischen, Alexander, Vissers, Lisenka E. L. M., Kooy, R. Frank, Vandeweyer, Geert

المصدر: European Journal of Human Genetics ; volume 28, issue 12, page 1726-1733 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-020-0682-0
http://www.nature.com/articles/s41431-020-0682-0.pdf
http://www.nature.com/articles/s41431-020-0682-0

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2

Academic Journal

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

المؤلفون: Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Sacoto, Maria J. Guillen, van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Wassink-Ruiter, Jolien S. Klein, Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjorg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.

المصدر: Jansen , S , van der Werf , I M , Innes , A M , Afenjar , A , Agrawal , P B , Anderson , I J , Atwal , P S , van Binsbergen , E , van den Boogaard , M-J , Castiglia , L , Coban-Akdemir , Z H , van Dijck , A , Doummar , D , van Eerde , A M , van Essen , A J , van Gassen , K L , Sacoto , M J G , van Haelst , M M , Iossifov , I , Jackson ....

مصطلحات موضوعية: UBIQUITIN LIGASES, MUTATIONS, GENE, SPECTRUM, E3, PHENOTYPE, IDENTIFICATION, GENEMATCHER, CANCER, FAMILY

Relation: https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4
https://doi.org/10.1038/s41431-018-0292-2

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3

Academic Journal

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

المؤلفون: Ba, Wei, Yan, Yan, Reijnders, Margot R. F., Schuurs-Hoeijmakers, Janneke H. M., Feenstra, Ilse, Bongers, Ernie M. H. F., Bosch, Danielle G. M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E. L. M., Kasri, Nael Nadif, De Vries, Bert B. A.

المصدر: Ba , W , Yan , Y , Reijnders , M R F , Schuurs-Hoeijmakers , J H M , Feenstra , I , Bongers , E M H F , Bosch , D G M , De Leeuw , N , Pfundt , R , Gilissen , C , De Vries , P F , Veltman , J A , Hoischen , A , Mefford , H C , Eichler , E E , Vissers , L E L M , Kasri , N N & De Vries , B B A 2016 , ' TRIO loss of ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d018d091-7794-4532-8f08-6ddfeae41a9c
https://doi.org/10.1093/hmg/ddv618

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4

Academic Journal

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

المصدر: Lugtenberg , D , Reijnders , M R F , Fenckova , M , Bijlsma , E K , Bernier , R , van Bon , B W M , Smeets , E , Vulto-van Silfhout , A T , Bosch , D , Eichler , E E , Mefford , H C , Carvill , G L , Bongers , E M H F , Schuurs-Hoeijmakers , J H M , Ruivenkamp , C A , Santen , G W E , van den Maagdenberg , A M J M , Peeters-Scholte , C M P C D ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/1526e2f9-c5f8-43dc-bc42-d94c6db6551d
https://doi.org/10.1038/ejhg.2015.282

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5

Academic Journal

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

المصدر: The American Journal of Human Genetics ; volume 96, issue 1, page 178 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2014.12.019
https://api.elsevier.com/content/article/PII:S0002929714005254?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929714005254?httpAccept=text/plain

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6

Academic Journal

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

المصدر: Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/99947/1/Vulto-van%20Silfhout%20et%20al,%20Mutations%20affecting%20the%20SAND.pdf; info:pmid/24726472; urn:issn:0002-9297

الاتاحة: https://www.zora.uzh.ch/id/eprint/99947/
https://doi.org/10.1016/j.ajhg.2014.03.013

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